A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7068n152



Internal ID22822771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:189809985..189888452hg38UCSC Ensembl
chr4:190731139..190809607hg19UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg3878468
hg1978469
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3210742, nsv3226753
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv7068n152
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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